RGD:15153031 Rat Genome Database

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Variant: RGD:15153031 -  Homo sapiens

RGD ID: 15153031
RS ID: rs139541400
ClinVar ID: CV719881
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPM1B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,457,558
GRCh38 2 44,230,419
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.44230419G>A
NC_000002.11:g.44457558G>A
NM_002706.5:c.1141G>A
NP_002697.1:p.Asp381Asn
More... 		02/07/2019 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PPM1B
Accession:NM_001033557
Location:3UTRS;EXON

Gene Symbol:PPM1B
Accession:NM_177969
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIVLVCFSNAPKVSDEAVKKDSELDKHLESRVEEIMEKSGEEGMPDLAHVMRILSAENIPNLPPGGGLAGKRNVIEAVY
SRLNPHRESDGASNEAEESGSQGKLVEALRQMRINHRGNYRQLLEEMLTSYRLAKVEGEESPAEPAATATSSNSDAGNPV
TMQESHTESESGLAELDSSNEDAGTKMSGEKI*

Gene Symbol:PPM1B
Accession:NM_002706
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAFLDKPKTEKHNAHGAGNGLRYGLSSMQGWRVEMEDAHTAVVGIPHGLEDWSFFAVYDGHAGSRVANYCSTHLLEHIT
TNEDFRAAGKSGSALELSVENVKNGIRTGFLKIDEYMRNFSDLRNGMDRSGSTAVGVMISPKHIYFINCGDSRAVLYRNG
QVCFSTQDHKPCNPREKERIQNAGGSVMIQRVNGSLAVSRALGDYDYKCVDGKGPTEQLVSPEPEVYEILRAEEDEFIIL
ACDGIWDVMSNEELCEYVKSRLEVSDDLENVCNWVVDTCLHKGSRDNMSIVLVCFSNAPKVSDEAVKKDSELDKHLESRV
EEIMEKSGEEGMPDLAHVMRILSAENIPNLPPGGGLAGKRNVIEAVYSRLNPHRESDGASNEAEESGSQGKLVEALRQMR
INHRGNYRQLLEEMLTSYRLAKVEGEESPAEPAATATSSNSDAGNPVTMQESHTESESGLAELDSSNEDAGTKMSGEKI*

Gene Symbol:PPM1B
Accession:XM_047444835
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAFLDKPKTEKHNAHGAGNGLRYGLSSMQGWRVEMEDAHTAVVGIPHGLEDWSFFAVYDGHAGSRVANYCSTHLLEHIT
TNEDFRAAGKSGSALELSVENVKNGIRTGFLKIDEYMRNFSDLRNGMDRSGSTAVGVMISPKHIYFINCGDSRAVLYRNG
QVCFSTQDHKPCNPREKERIQNAGGSVMIQRVNGSLAVSRALGDYDYKCVDGKGPTEQLVSPEPEVYEILRAEEDEFIIL
ACDGIWDVMSNEELCEYVKSRLEVSDDLENVCNWVVDTCLHKGSRDNMSIVLVCFSNAPKVSDEAVKKDSELDKHLESRV
EEIMEKSGEEGMPDLAHVMRILSAENIPNLPPGGGLAGKRNVIEAVYSRLNPHRESDGASNEAEESGSQGKLVEALRQMR
INHRGNYRQLLEEMLTSYRLAKVEGEESPAEPAATATSSNSDAGNPVTMQESHTESESGLAELDSSNEDAGTKMSGEKI*

Gene Symbol:PPM1B
Accession:XM_047444837
Location:INTRON

Gene Symbol:PPM1B
Accession:XM_047444836
Location:INTRON

Gene Symbol:PPM1B
Accession:XM_011532936
Location:INTRON

Gene Symbol:PPM1B
Accession:NM_177968
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000879928 CLINVAR
dbSNP (RS) rs139541400 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PPM1B CLINVAR
OMIM 603770 CLINVAR